Search Results - Kirsty McWalter

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  1. 1
    De novo substitutions of TRPM3 cause intellectual disability and epilepsy

    De novo substitutions of TRPM3 cause intellectual disability and epilepsy by David A. Dyment, Paulien A. Terhal, Cecilie F. Rustad, Kristian Tveten, Christopher Griffith, Parul Jayakar, Marwan Shinawi, Sara Ellingwood, Rosemarie Smith, Koen L.I. van Gassen, Kirsty McWalter, A. Micheil Innes, Matthew A. Lines

    Published 2019
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  2. 2
    Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

    Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics by Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, T.C. Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof

    Published 2025
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  3. 3
    Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

    Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity by Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, C. R. Weber, Carlos A. Bacino, Kristin Barañano, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin‐Robinet, Marjan M. Weiss, Gladys Zapata, Petra Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin

    Published 2020
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  4. 4
    Loss-of-function variants in <i>MYCBP2</i> cause neurobehavioural phenotypes and corpus callosum defects

    Loss-of-function variants in <i>MYCBP2</i> cause neurobehavioural phenotypes and corpus callosum defects by Lama AlAbdi, Muriel Desbois, Domnița-Valeria Rusnac, Raashda A. Sulaiman, Jill A. Rosenfeld, Seema R. Lalani, David R. Murdock, Lindsay C. Burrage, Ping Yee Billie Au, Shelley Towner, William G. Wilson, Ka Sing Wong, Theresa Brunet, Gertrud Strobl‐Wildemann, Jennifer Burton, George Hoganson, Kirsty McWalter, Amber Begtrup, Yuri A. Zárate, Elyse Christensen, Karla J. Opperman, Andrew C. Giles, Rana Helaby, Artur Kania, Ning Zheng, Brock Grill, Fowzan S. Alkuraya

    Published 2022
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  5. 5
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants by Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    Published 2018
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  6. 6
    Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

    Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer by Kezhi Yan, Justine Rousseau, Keren Machol, Laura Cross, Katherine Agre, Cynthia Forster Gibson, Anne Goverde, Kendra Engleman, Hannah Verdin, Elfride De Baere, Lorraine Potocki, Dihong Zhou, Maxime Cadieux‐Dion, Gary A. Bellus, Monisa Wagner, Rebecca J. Hale, Natacha Esber, Alan Riley, Benjamin D. Solomon, Megan T. Cho, Kirsty McWalter, Roy Eyal, Meagan K. Hainlen, Bryce A. Mendelsohn, Hillary M. Porter, Brendan C. Lanpher, Andrea M. Lewis, Juliann M. Savatt, Isabelle Thiffault, Bert Callewaert, Philippe M. Campeau, Xiang‐Jiao Yang

    Published 2020
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  7. 7
    SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

    SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns by Tara Wenger, Abbey Scott, Lukas Kruidenier, Megan Sikes, Alexandra Keefe, Kati J. Buckingham, Colby T. Marvin, Kathryn M. Shively, Tamara Bacus, Olivia Sommerland, Kailyn Anderson, Heidi Gildersleeve, Chayna Davis, Jamie Love‐Nichols, Katherine E. MacDuffie, Danny E. Miller, Joon‐Ho Yu, Amy Snook, Britt Johnson, David L. Veenstra, Julia Parish-Morris, Kirsty McWalter, Kyle Retterer, Deborah Copenheaver, Bethany Friedman, Jane Juusola, Erin Ryan, Renee Varga, Dan Doherty, Katrina M. Dipple, Jessica X. Chong, Paul Kruszka, Michael J. Bamshad

    Published 2025
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  8. 8
    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies by Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria Teresa Bonati, Campbell K. Brasington, Megan T. Cho, Laurie Demmer, Tzipora C. Falik‐Zaccai, Candace Gamble, Yorck Hellenbroich, Maria Iascone, Fernando Kok, Sonal Mahida, Hanna Mandel, Thorsten Marquardt, Kirsty McWalter, Bianca Panis, Alexander Pepler, Hailey Pinz, Luiza Ramos, Deepali N. Shinde, Constance Smith‐Hicks, Alexander P.A. Stegmann, Petra Stöbe, Constance T. R. M. Stumpel, Carolyn M. Wilson, Johannes R. Lemke, Nataliya Di Donato, Kenneth G. Miller, Rami Abou Jamra

    Published 2019
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  9. 9
    Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

    Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency by David B. Beck, Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P. Santos‐Cortez, Eloise J. Prijoles, Renee Bend, Boris Keren, Cyril Mignot, Marie-Christine Nougues, Katrin Õunap, Tiia Reimand, Sander Pajusalu, Muhammad Zahid, Muhammad Arif Nadeem Saqib, Julien Buratti, Eleanor G. Seaby, Kirsty McWalter, Aida Telegrafi, Dustin Baldridge, Marwan Shinawi, Suzanne M. Leal, G. Bradley Schaefer, Roger E. Stevenson, Siddharth Banka, Roberto Bonasio, Jill A. Fahrner

    Published 2020
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  10. 10
    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders by Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach, Perrine Charles, Emily Alderman, Kathleen Brown, Maxime Cadieux‐Dion, Tracy Cartwright, Yanmin Chen, Carrie Costin, Sarah Fehr, Keely Fitzgerald, Emily Fleming, Kimberly Foss, Thoa K. Ha, Gabriele Hildebrand, Denise Horn, Shuxi Liu, Elysa J. Marco, Marie McDonald, Kirsty McWalter, Simone Race, Eric T. Rush, Yue Si, Carol Saunders, Anne Slavotinek, Sylvia Stöckler‐Ipsiroglu, Aida Telegrafi, Isabelle Thiffault, Erin Torti, Anne Chun‐Hui Tsai, Xin Wang, Muhammad Sohail Zafar, Boris Keren, Uwe Kornak, Cornelius F. Boerkoel, Ghayda Mirzaa, Nadja Ehmke

    Published 2019
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  11. 11
    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation by Chris Balak, Marianne Bénard, Élise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle Ernoult‐Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maïté Courel, Marcus Naymik, Kristine Bachman, Rolph Pfundt, Patrick Rump, Johanna ter Beest, Ingrid M. Wentzensen, Kristin G. Monaghan, Kirsty McWalter, Ryan Richholt, Antony Le Béchec, Wayne M. Jepsen, Matt De Both, Newell Belnap, Anne Boland, Ignazio S. Piras, Jean‐François Deleuze, Szabolcs Szelinger, Hélène Dollfus, Jamel Chelly, Jean Muller, Arthur J. Campbell, Dennis Lal, Sampathkumar Rangasamy, Jean‐Louis Mandel, Vinodh Narayanan, Matt Huentelman, Dominique Weil, Amélie Piton

    Published 2019
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  12. 12
    Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

    Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures by Markus Zweier, Anaïs Begemann, Kirsty McWalter, Megan T. Cho, Lucia Abela, Siddharth Banka, Bettina Behring, Andrea Berger, Chester Brown, Maryline Carneiro, Jiani Chen, Gregory M. Cooper, Candice R. Finnila, María J. Guillen Sacoto, Alex Henderson, Ulrike Hüffmeier, Pascal Joset, Bronwyn Kerr, Gaëtan Lesca, Gloria Leszinski, John McDermott, Meira R. Meltzer, Kristin G. Monaghan, Roya Mostafavi, Katrin Õunap, Barbara Plecko, Zöe Powis, Gabriela Purcarin, Tiia Reimand, Korbinian M. Riedhammer, John M. Schreiber, Deepa Sirsi, Klaas J. Wierenga, Monica H. Wojcik, Sorina Mihaela Papuc, Katharina Steindl, Heinrich Sticht, Anita Rauch

    Published 2019
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  13. 13
    Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

    Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability by Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan M. Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A. Hills, Elles M. J. Boon, Lina Basel‐Salmon, Osnat Konen, Hadassa Goldberg‐Stern, Lily Bazak, Shay Tzur, Jianliang Jin, Xiuli Bi, Michael Bruccoleri, Kirsty McWalter, Megan T. Cho, Maria I. Scarano, G. Bradley Schaefer, Susan Sklower Brooks, Susan Hughes, Koen L.I. van Gassen, Johanna M. van Hagen, Tej K. Pandita, Pankaj B. Agrawal, Philippe M. Campeau, Xiang‐Jiao Yang

    Published 2019
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  14. 14
    Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

    Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy by Yu‐Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola Thompson, Mercedes Pardo, Lu Yu, Joy Norris, Yunhui Peng, Karen W. Gripp, Kirk Aleck, Chumei Li, Ed Spence, Tae‐Ik Choi, Soo Jeong Kwon, Hee‐Moon Park, Daseuli Yu, Won Do Heo, Marie R. Mooney, Shahid Mahmood Baig, Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol‐Hee Kim, Erica E. Davis, Charles E. Schwartz

    Published 2020
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  15. 15
    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy by Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Tom W. Claydon, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E. Buerki, Tara Candido, Patrice Eydoux, Daniel M. Evans, William T. Gibson, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Tamsin Tarling, Eric Toyota, Katelin N. Townsend, Margot I. Van Allen, Clara van Karnebeek, Suzanne Vercauteren

    Published 2017
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  16. 16
    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome by Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp‐Versteeg, Marga Schepens, C Man, Christian Gilissen, Megan T. Cho, Kirsty McWalter, Margje Sinnema, James W. Wheless, Marleen Simon, Casie A. Genetti, Alicia Casey, Paulien A. Terhal, Jasper J. van der Smagt, Koen L.I. van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas‐Rothschild, David A. Koolen, Pankaj B. Agrawal, Trevor L. Hoffman, Nina Powell‐Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf A. Bodamer, Julia Hoefele, Korbinian M. Riedhammer, Eva Maria Christina Schwaibold, Velibor Tasić, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R. Higgs, Jamie M. Kramer, Tjitske Kleefstra

    Published 2020
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  17. 17
    New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

    New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics by Anaïs Begemann, Heinrich Sticht, Amber Begtrup, Antonio Vitobello, Laurence Faivre, Siddharth Banka, Bader Alhaddad, Reza Asadollahi, Jessica Becker, Tatjana Bierhals, Kathleen Brown, Ange‐Line Bruel, Theresa Brunet, Maryline Carneiro, Kirsten Cremer, Robert C. Day, Anne‐Sophie Denommé‐Pichon, Dave A. Dyment, Hartmut Engels, Rachel S. Fisher, Elaine Goh, M.J. Hajianpour, Lucia Ribeiro Machado Haertel, Nadine Hauer, Maja Hempel, Theresia Herget, Jessika Johannsen, Cornelia Kraus, Gwenaël Le Guyader, Gaëtan Lesca, Frédéric Tran Mau‐Them, John McDermott, Kirsty McWalter, Pierre Meyer, Katrin Õunap, Bernt Popp, Tiia Reimand, Korbinian M. Riedhammer, Martina Russo, Lynette G. Sadleir, Margarita Sáenz, Manuel Schiff, Elisabeth Schuler, Steffen Syrbe, Amelie T. van der Ven, Alain Verloès, Marjolaine Willems, Christiane Zweier, Katharina Steindl, Markus Zweier, Anita Rauch

    Published 2020
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  18. 18
    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia by Claire Guissart, Xénia Latypova, Paul Rollier, Tahir Naeem Khan, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, Susanne Kjærgaard, Sarah Weckhuysen, Gaëtan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G. Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon G. Sattler, Irman Forghani, Isabelle Thiffault, Christine M. Freitag, Deborah Barbouth, Maxime Cadieux‐Dion, Rebecca Willaert, María J. Guillen Sacoto, Nicole P. Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Karlowicz, Jean‐François Deleuze, Monica H. Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, M. Kœnig, Erica E. Davis, Laurent Pasquier, Sébastien Küry

    Published 2018
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  19. 19
    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder by Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

    Published 2019
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  20. 20
    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome by Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, Natalie Hauser, Rebecca L. Belmonte, G. R. Wilson, Daniëlle G.M. Bosch, Paula A. Bubulya, Vandana Shashi, Slavé Petrovski, Joshua K. Stone, Eun Young Park, Joris A. Veltman, Margje Sinnema, Connie T. R. M. Stumpel, Jos Draaisma, Joost Nicolai, Helger G. Yntema, Kristin Lindstrom, Bert B.A. de Vries, Tamison Jewett, Stephanie L. Santoro, Julie Vogt, Kristine Bachman, Andrea Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortüm, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria C. Bramswig, Franco Laccone, Jana Behunova, Helga Rehder, Christopher T. Gordon, Marlène Rio, Serge Romana, Sha Tang, Dima El‐Khechen, Megan T. Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P.A. Stegmann, Servi J.C. Stevens, Dong‐Er Zhang, David Traver, Xu Yao, Daniel G. MacArthur, Han G. Brunner, Grazia M.S. Mancini, R Myers, Laurie B. Owen, Ssang‐Taek Lim, David L. Stachura, Lisenka E.L.M. Vissers, E. Ahn

    Published 2016
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